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Doctor insights on: Does A Dominant Or Recessive Allele Cause Severe Combined Immunodeficiency

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Explan why one human immunodeficiency virus test cannot definitely diagnose hiv?

Explan why one human immunodeficiency virus test cannot definitely diagnose hiv?

Good question: The HIV test to which you refer is an elisa assay which is quite sensitive but not as specific as the confirmatory western blot. These measure the presence of antibodies to the HIV and these may take from 2 wks to several months to develop. If you run the test before the antibodies have appeared, it will be negative, only to change to positive once antibody formation has occurred. ...Read more

Dr. Dawn Sokol
138 doctors shared insights

Weak Immune System (Definition)

that's when a person has a weakened immune system from whatever reason: drugs, infection, malnutrition, etc. While immunodeficiency, is when an arm of the immune system is weakened or absent, can be something primary (born with) or secondary (acquired later in life) ...Read more


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Does a dominant or recessive allele cause severe combined immunodeficiency?

Does a dominant or recessive allele cause severe combined immunodeficiency?

Not an easy answer: A person has two copies (or alleles) for each gene. One inherited from each parent. Dominant alleles are associated to clinical manifestations even when the other allele is normal. Two recessive alleles are needed to produce clinical manifestations. One recessive allele and one normal would result in a state called 'carrier', with no clinical symptoms. ...Read more

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Does anyone treat a baby with severe combined immunodeficiency?

Does anyone treat a baby with severe combined immunodeficiency?

SCID treatment: Highly-trained pediatric immunologists in hospital settings are generally the doctors who treat scid. A good place for you to start learning about this disorder is to go to the website of the immune deficiency foundation: www.Primaryimmune.Org or to go to the jeffrey modell centers website: www.Info4pi.Org. Your local allergist/immunologist can also refer you to the nearest facility in your area. ...Read more

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Why is severe combined immunodeficiency pt called "bubble boy"?

Why is severe combined immunodeficiency pt called "bubble boy"?

Houston patient: In the late 70's early 80's when not much could be done for scid, nasa designed the most sterile environment for a patient in houston, to avoid infections. Included was a space suit like. It worked relatively well. It was a 'bubble'. Social and psychological issues were significant however, and a matter of controversy. With bone marrow transplant advances, this extreme isolation is not needed. ...Read more

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Why is severe combined immunodeficiency called bubble boy disease?

Why is severe combined immunodeficiency called bubble boy disease?

It really happened..: Scid (severe combined immunodef) is a life threatening condition that leaves a child with essentially no functioning immune system. They can die from infections. There was a child born in the 1970s whose father had connections at nasa. They were able to create a sterile environment for him (bubble) and a space suit for him to go "outside". He eventually died of complications. David vetter. ...Read more

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Why is child with severe combined immunodeficiency called "bubble boy"?

Why is child with severe combined immunodeficiency called "bubble boy"?

Early history: In 1976 an early travolta movie( the boy in a plastic bubble) portrayed the life of a scid kid in a houston research facility. To avoid germs, the kid was kept in a sterilized room with limited access & bubble like clear plastic barriers that allowed his caretakers & family to see & interact with him. ...Read more

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Is there a way to treat severe combined immunodeficiency with gene therapy?

Is there a way to treat severe combined immunodeficiency with gene therapy?

Yes, experimental: Over 30 patients with severe combined immunodeficiency (scid) have been treated with gene therapy. They have included Adenosine deaminase deficiency form and the x-linked form. Results have been highly promising and favorable compared to bone marrow transplantation. Long-term benefits and side effects are still been studied. ...Read more

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What is severe combined immunodeficiency scid?

What is severe combined immunodeficiency scid?

SCID: Scid is severe combined immunodeficiency syndrome. It is a serious immune defect (primary immunodeficiency = pid) that requires life-saving treatment. The immune deficiency foundation has a great parents handbook about all pid's including scid. http://primaryimmune.org. ...Read more

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What is scid severe combined immunodeficiency?

What is scid severe combined immunodeficiency?

Immunodeficiency: Scid is one of the life threatening immunodeficiencies that a child can be born with. Because of missing part of the immune system these children lack any ability to fight infection. It is imperative that they are identified within the first weeks of life so that treatment can be obtained. ...Read more

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Is there a way to prevent severe combined immunodeficiency?

No: Scid is a genetic disease that children are born with. Currently there is no way to prevent scid. However, newborn screening for scid can identify scid patients very early in life and allow them the opportunity to be further eval/treated and save their lives. ...Read more

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Which enzyme is too low in severe combined immunodeficiency?

Which enzyme is too low in severe combined immunodeficiency?

Not always an enzyme: Severe combined immunodeficiency (scid) is diagnosed when t cells (a type of white blood cell) are absent or not working. There are at least 15 causes of scid. The very first one identified, though currently not the most common form is caused by deficiency of the enzyme Adenosine deaminase, which remove toxic products that kill t cells. ...Read more

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Is there a way to test genetically for severe combined immunodeficiency?

Definetely: Severe combined immunodeficiency (scid) are a group of genetic diseases that have in common their manifestation as a severe immune compromise, resulting in lack of defenses against infections. Genetic testing is available is specialized laboratories. A promising development is newborn screening for scid in some states: wi, ma, ny, ca. ...Read more

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How does the doctor diagnose severe combined immunodeficiency?

How does the doctor diagnose severe combined immunodeficiency?

History, blood test: Diagnosis is suspected when a child present with too many infections or failure to gain weight. It is confirmed by studying the number and function of t cells (special set of white blood cells). Genetic testing follows to classify the disease. In some states (wi, ma, ca, ny) newborns are currently screened for scid. ...Read more

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Why is newborn screening essential for severe combined immunodeficiency:?

Why is newborn screening  essential for severe combined immunodeficiency:?

Early treatment: Early detection of scid will permit early treatment to avoid life threatening complications. A baby with scid is born with transient immunity from mom from the placenta. However, this material disappears leaving baby at risk for invasion infections. Scid babies will not develope antibodies to germs and fight them off.Early detection allows for treatment to avoid catastrophic illness. ...Read more

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How is severe combined immunodeficiency inhereited?

How is severe combined immunodeficiency inhereited?

Forms of SCID: The original question asked about scid (severe combined immunedeficiency), not cvid (common variable immunodeficiency). There are several types of scid. Scid can be transmitted by both x-linked, and autosomal recessive patterns. Patients with scid have a defect in their immune system that makes them vulnerable to deadly infections. See an immunologist if you suspect scid. ...Read more

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What are the tests for severe combined immunodeficiency?

Depends: Scid screening should be done very early in life -- within the first few days. This test is clinically available and looks for, or the lack of, trec's -- which are parts of dna that should be present if immune system is developing properly. If scid screen is abnl and suggests scid the immunophenotyping will be done to confirm screen and further identify genetic defect. ...Read more

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In what way is severe combined immunodeficiency transmitted?

In what way is severe combined immunodeficiency transmitted?

Inherited: Severe combined immunodeficiency (scid) is a genetic condition. The defective gene is transmitted from parents to their children, though many times is an 'accident of nature' that starts with the affected child. Genetic counseling is helpful. ...Read more

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What is the definition or description of: Severe combined immunodeficiency?

What is the definition or description of: Severe combined immunodeficiency?

SCID: Severe combined immunodeficiency or SCID is a genetic disorder. Patients have non functioning T and B cells - cells that are critical parts of immune system. Patients are susceptible to bacterial, fungal and viral infections as they lack defenses to ward off infection. ...Read more

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What is the life expectency of someone who has severe combined immunodeficiency?

What is the life expectency of someone who has severe combined immunodeficiency?

Good with treatment: Without treatment, severe combined immunodeficiency is lethal in infancy. If treated with a bone marrow transplantation or similar immune reconstitution, before severe infections occur, life expectancy is the same as normal individuals. Adults with scid treated in childhood have their own children. Poor organ function as a result of infections leaving scars might limit life expectancy. ...Read more

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Dr. David Rosenthal
139 doctors shared insights

Severe Combined Immunodeficiency (Definition)

Severe combined immunodeficiency or SCID is a genetic disorder. Patients have non functioning T and B cells - cells that are critical parts of immune system. Patients are susceptible to bacterial, fungal and viral infections as they lack defenses ...Read more